Marilyn Li, MD

Children's Hospital of Philadelphia
Philadelphia, Pennsylvania

Marilyn LI

Marilyn M. Li, M.D. is a Professor of Pathology and Laboratory Medicine, Professor of Pediatrics, Associate Chair for Diversity, Equity, and Inclusion, Vice Chief of the Division of Genomic Diagnostics, Director of Cancer Genomic Diagnostics at Children’s Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine. Dr. Li holds the American Board of Medical Genetics and Genomics certification in Clinical Cytogenetics and Clinical Molecular Genetics.

She is a fellow of ACMG, AMP, ASHG, and ASCO. She is a member of the ACMG Professional Practice & Guideline Committee and the Chair of the AMP Somatic Variant Interpretation Workgroup. Dr. Li's primary research interest is the clinical application of advanced technologies including microarray and NGS in cancer research and clinical diagnosis to facilitate precision cancer care. Her group has studied thousands of cancer genomes using custom-designed cancer-specific arrays, NGS panels, and cancer exomes/genome sequencing. Their experience demonstrated that these state-of-the-art technologies uncover genomic alterations that are essential for cancer diagnosis, risk stratification, and therapeutic selection.

She initiated, organized, and is the first president of the Cancer Genomics Consortium, an international consortium whose mission is to facilitate the development and utilization of cutting-age technologies for high quality, reliable cancer genetic testing in diagnostic laboratories. She is the recipient of the 2010-2011 Luminex/ACMGF Award for the promotion of safe and effective genetic testing and services, the Visionary Leadership Award of CGC in 2019, and Excellence in Genetics Service Award by Association of Chinese Geneticists in America in 2021. Other research projects in her lab include studies of common leukemia- and lymphoma-associated genetic aberrations in healthy individuals, mosaic overgrowth syndromes, liquid biopsy in early cancer detection and prevention.

She is an active member of the medical school and is involved in teaching medical students and Ph.D. students and training residents and fellows.